Purpose of Review

Obesity and diabetes have already become the second largest risk factor for cardiovascular disease. During the last decade, remarkable advances have been made in understanding the human genome’s contribution to glucose homeostasis disorders and obesity. A few studies on rare mutations of candidate genes provide potential genetic targets for the treatment of diabetes and obesity. In this review, we discussed the detailed findings of these studies and the possible causalities between specific genetic variations and dysfunctions in energy or glucose homeostasis. We are optimistic that novel therapeutic strategies targeting these specific mutants for treating and preventing diabetes and obesity will be developed in the near future.

Recent Findings

Studies on rare genetic mutation-caused obesity or diabetes have identified potential genetic targets to decrease body weight or reduce the risk of diabetes.

Summary

Rare mutations observed in lipodystrophy, obese, or diabetic human patients are promising targets in the treatment of diabetes and obesity.

中文翻译：

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葡萄糖体内稳态和肥胖症的新型靶点-罕见突变的经验教训

审查目的

肥胖和糖尿病已经成为心血管疾病的第二大危险因素。在过去的十年中，在了解人类基因组对葡萄糖稳态和肥胖症的贡献方面取得了显着进展。对候选基因稀有突变的一些研究为糖尿病和肥胖症的治疗提供了潜在的遗传靶标。在这篇综述中，我们讨论了这些研究的详细发现，以及特定遗传变异与能量或葡萄糖稳态失调之间的可能因果关系。我们乐观地认为，将在不久的将来开发针对这些特定突变体的新型治疗策略，以治疗和预防糖尿病和肥胖症。

最近的发现

对罕见的由基因突变引起的肥胖症或糖尿病的研究已经确定了减轻体重或降低患糖尿病风险的潜在遗传靶标。

概要

在脂肪营养不良，肥胖或糖尿病人患者中观察到的罕见突变是治疗糖尿病和肥胖症的有希望的靶标。